Variant report

Variant	rs12568014
Chromosome Location	chr1:227175473-227175474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:227173495-227175725	K562	blood:	n/a	n/a
2	POLR2A	chr1:227175428-227175677	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:227171755-227176557	K562	blood:	n/a	n/a
4	POLR2A	chr1:227174808-227176568	HL-60	blood:	n/a	n/a
5	POLR2A	chr1:227175463-227175584	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:227170173-227176506	K562	blood:	n/a	n/a
7	FOSL2	chr1:227175253-227176471	HepG2	liver:	n/a	chr1:227176439-227176451
8	POLR2A	chr1:227174968-227176363	HL-60	blood:	n/a	n/a
9	POLR2A	chr1:227175456-227175628	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:227172012-227175716	K562	blood:	n/a	n/a
11	POLR2A	chr1:227169948-227179599	K562	blood:	n/a	n/a
12	POLR2A	chr1:227175449-227175529	A549	lung:	n/a	n/a
13	POLR2A	chr1:227175468-227175763	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:227175408-227175636	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:227170107-227176585	K562	blood:	n/a	n/a
16	POLR2A	chr1:227175232-227175600	K562	blood:	n/a	n/a
17	POLR2A	chr1:227175459-227175788	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:227174148-227176843	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227166708..227168288-chr1:227175078..227176909,2	MCF-7	breast:
2	chr1:227165601..227167978-chr1:227173311..227176266,3	MCF-7	breast:
3	chr1:227154071..227157064-chr1:227173659..227175478,2	MCF-7	breast:
4	chr1:227128683..227130385-chr1:227174300..227176049,2	MCF-7	breast:
5	chr1:227173653..227176046-chr1:227186826..227189560,2	MCF-7	breast:
6	chr1:227173983..227176329-chr1:227192052..227193578,2	MCF-7	breast:
7	chr1:227126152..227130822-chr1:227174735..227178540,5	MCF-7	breast:
8	chr1:227168074..227172579-chr1:227173053..227177156,6	MCF-7	breast:
9	chr1:227100125..227100781-chr1:227175209..227175979,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233706	TF binding region
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12562621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12562646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12565025	0.92[ASN][1000 genomes]
rs12565212	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12565685	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12567464	0.84[ASN][1000 genomes]
rs12567790	1.00[ASN][1000 genomes]
rs12567972	0.96[ASN][1000 genomes]
rs12569190	0.84[ASN][1000 genomes]
rs12569194	0.84[ASN][1000 genomes]
rs1316851	0.84[ASN][1000 genomes]
rs16841298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16846716	0.84[ASN][1000 genomes]
rs16846731	0.84[ASN][1000 genomes]
rs16846733	0.84[ASN][1000 genomes]
rs16846738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16846751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16846772	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16846779	1.00[ASN][1000 genomes]
rs16846780	1.00[ASN][1000 genomes]
rs16846783	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16846790	0.96[ASN][1000 genomes]
rs16846792	0.96[ASN][1000 genomes]
rs16846798	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16846808	1.00[ASN][1000 genomes]
rs16846811	1.00[ASN][1000 genomes]
rs16846862	0.84[ASN][1000 genomes]
rs16846867	0.84[ASN][1000 genomes]
rs16846903	1.00[JPT][hapmap]
rs16846944	1.00[JPT][hapmap]
rs16847001	1.00[JPT][hapmap]
rs16847137	0.84[ASN][1000 genomes]
rs2009053	0.84[ASN][1000 genomes]
rs2297411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2297417	1.00[ASN][1000 genomes]
rs3738728	0.96[ASN][1000 genomes]
rs3795450	1.00[ASN][1000 genomes]
rs3795452	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs41527149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4281295	0.84[ASN][1000 genomes]
rs4459073	0.84[ASN][1000 genomes]
rs4521963	0.84[ASN][1000 genomes]
rs56043893	1.00[ASN][1000 genomes]
rs60107850	0.92[ASN][1000 genomes]
rs944601	0.84[ASN][1000 genomes]
rs944602	0.84[ASN][1000 genomes]
rs961490	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227147000-227177000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:227148600-227180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
4	chr1:227154800-227176800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:227158400-227183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:227159000-227175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:227160000-227177200	Weak transcription	GM12878-XiMat	blood
8	chr1:227160600-227175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:227160800-227181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:227162200-227176000	Strong transcription	Primary T cells from cord blood	blood
11	chr1:227162400-227181600	Weak transcription	NHEK	skin
12	chr1:227162600-227175800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:227162600-227176600	Strong transcription	Thymus	Thymus
14	chr1:227163000-227180000	Weak transcription	HSMM	muscle
15	chr1:227163400-227191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:227163800-227176200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:227163800-227180400	Weak transcription	Fetal Brain Male	brain
18	chr1:227164200-227175800	Strong transcription	HepG2	liver
19	chr1:227164400-227175600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:227165000-227176000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:227165400-227175800	Strong transcription	Ovary	ovary
22	chr1:227168800-227175600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:227168800-227175600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:227169600-227175800	Strong transcription	Liver	Liver
25	chr1:227169800-227175800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:227170000-227176000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:227170400-227176200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:227170400-227176400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:227170400-227177600	Strong transcription	Fetal Brain Female	brain
30	chr1:227170600-227177600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:227170800-227176200	Genic enhancers	Left Ventricle	heart
32	chr1:227171400-227175600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:227172000-227175600	Strong transcription	Primary B cells from cord blood	blood
34	chr1:227172000-227175600	Strong transcription	Brain Germinal Matrix	brain
35	chr1:227172200-227175600	Genic enhancers	Pancreas	Pancrea
36	chr1:227172600-227177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:227172800-227176200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:227172800-227176200	Genic enhancers	Spleen	Spleen
39	chr1:227172800-227176600	Weak transcription	HSMMtube	muscle
40	chr1:227173000-227176000	Strong transcription	Fetal Stomach	stomach
41	chr1:227173200-227177400	Enhancers	Brain Angular Gyrus	brain
42	chr1:227173200-227178200	Weak transcription	Fetal Kidney	kidney
43	chr1:227173400-227175600	Strong transcription	Rectal Smooth Muscle	rectum
44	chr1:227173400-227176000	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr1:227173400-227176600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:227173400-227178200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:227173400-227178600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:227173400-227183400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:227173600-227175800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:227173600-227175800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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